Vitamin D supplementation in pregnancy: A word of caution. Familial hypercalcaemia due to disordered vitamin D metabolism

Autor: Ian Phillips, Glenville Jones, Christopher M. Florkowski, Penny J. Hunt, Martin Kaufmann, Steven Soule, Christy Macdonald, Thomas Upton

Publikováno v: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 57:186-191

Disorders of vitamin D metabolism have only recently become more widely recognized. In 2011, a series reported six children with familial idiopathic infantile hypercalcaemia, a condition in which patients develop hypercalcaemia following bolus vitami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a1dda551fef9bf3566bdc81b88ac42
https://doi.org/10.1177/0004563219897691

TIRADS Management Guidelines in the Investigation of Thyroid Nodules; Illustrating the Concerns, Costs, and Performance

Autor: Stephen J. Skehan, T J Cawood, Donal O'Shea, Yi Ma, Penny J. Hunt, Georgia Rose Mackay

Publikováno v: Journal of the Endocrine Society

Context Ultrasound (US) risk-stratification systems for investigation of thyroid nodules may not be as useful as anticipated. Objective We aimed to assess the performance and costs of the American College of Radiology Thyroid Image Reporting And Data

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f7527ba09807b3bed8b2130da5ea767
https://pubmed.ncbi.nlm.nih.gov/32285020

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies—Letter

Autor: Leeyan S. Gilmour, Penny J. Hunt, Karen E. Mackenzie, Martin de Bock

Publikováno v: Clinical Cancer Research. 25:1688-1688

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::539f3990ca288092a254215ce1f35bbf
https://doi.org/10.1158/1078-0432.ccr-18-2897

Association of the TSHR gene with Graves' disease: the first disease specific locus

Autor: Stephen C. L. Gough, Angie P Green, Jayne A. Franklyn, Delilah Zabaneh, Bryan M. Dechairo, Thomas Heiberg Brix, Anthony P. Weetman, J. E. Collins, Gary Dawson, Laszlo Hegedüs, Oliver J. Brand, Ian Mackay, Wilmar M. Wiersinga, John Wass, Bruce G. Robinson, John M. C. Connell, Penny J. Hunt, Alisoun H. Carey

Publikováno v: European journal of human genetics, 13(11), 1223-1230. Nature Publishing Group

The development of autoimmune thyroid disease (AITD) is associated with autoantibodies directed against the thyroid stimulating hormone receptor (TSHR). Previous studies have failed to demonstrate a consistent association between the TSHR and AITD, o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44a74c1a0cde5268104e6a9df9acab9e
https://ora.ox.ac.uk/objects/uuid:c4a66c91-6442-4de9-85c3-78d18f3828af

A genome-wide screen in 1119 relative pairs with autoimmune thyroid disease

Autor: Stephen C. L. Gough, Laszlo Hegedüs, Anthony P. Weetman, John A.H. Wass, Krishna Chatterjee, Jayne A. Franklyn, John M. C. Connell, Jenny C. Taylor, Delilah Zabaneh, Bruce G. Robinson, Thomas Heiberg Brix, Ian Mackay, Wilmar M. Wiersinga, Penny J. Hunt

Publikováno v: Taylor, J C, Gough, S C, Hunt, P J, Brix, T H, Chatterjee, K, Connell, J M, Franklyn, J A, Hegedüs, L, Robinson, B G, Wiersinga, W M, Wass, J A H, Zabaneh, D, Mackay, I & Weetman AP, AP 2006, ' A genome-wide screen in 1119 relative pairs with autoimmune thyroid disease ', Journal of Clinical Endocrinology and Metabolism, vol. 91, pp. 646-653 .
Journal of clinical endocrinology and metabolism, 91(2), 646-653. The Endocrine Society

CONTEXT: Autoimmune thyroid diseases (AITD), comprising Graves' disease and autoimmune hypothyroidism, are characterized by loss of immunological self-tolerance to thyroid antigens. These are complex diseases arising from a combination of genetic and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5140b5920b1a531c0c45cd7e26a45933
https://doi.org/10.1210/jc.2005-0686